Clinical characteristics of children affected by autism spectrum disorder with and without generalized hypotonia.

In this cross-sectional study, we aimed to evaluate the association between generalized hypotonia (GH) and demographic features and clinical characteristics in toddlers (2 to 5 years) with autism spectrum disorder (ASD). Among 93 children, 32 (34.4%) had GH. These patients had a later onset of independent walking (17 vs. 15 months, p < 0.01), a higher proportion of motor stereotypies (65.6 vs. 27.9%, p < 0.01), a lower mean total score in the parental-reported Generic Core Scale of Pediatric Quality of Life Inventory 4.0 (71 vs. 76 points, p 0.03), and a higher mean total score in the Calibrated Severity Score of Autism Diagnostic Observation Schedule version 2 at diagnosis (6 vs. 5 points, p 0.02) compared to the group without GH.Conclusion: Hypotonia is associated with other motor abnormalities and could be an early marker for higher autistic symptom severity and lower quality of life in young children with ASD. What is Known: • Motor function is closely related to autism spectrum disorder (ASD) • Muscle hypotonia is present in 15% to 67% of children with ASD What is New: • Muscle hypotonia is associated with higher autistic symptom severity and lower quality of life in children with ASD • Children with ASD and muscle hypotonia have more commonly motor stereotypies and a later onset of independent walking.

The Influence of Social and Developmental Factors on the Timing of Autism Spectrum Disorder Diagnosis of Preschool-Aged Children: Evidence from a Specialized Chilean Center.

We investigated the influence of developmental and social factors on the age of autism diagnosis (AoD) in a cohort of toddlers living in Chile. A cross-sectional study was conducted among 509 preschool children diagnosed with autism spectrum disorder [M = 40.2 months (SD = 8.6), girls: 32%] in the neurodevelopmental unit of a university clinic in Santiago, Chile (2015-2023). Structural changes in the annual trend of AoD were tested. Generalized linear models (gamma distribution) with and without interaction terms were used for the multivariate analysis, adjusting for gender, residential area, year of diagnosis, developmental variables (language regression, delayed walking, and use of expressive verbal language), and primary caregiver age and education level (CEL). 95% confidence intervals of the unstandardized regression coefficients (B) were calculated using 1000 bootstrap resampling to estimate associations. AoD increased between 2021-2022 and decreased in 2023. Female gender (B = 2.72 [1.21-4.23]), no history of language regression (B = 3.97 [1.66-6.28]), and the presence of expressive verbal language at diagnosis (B = 1.57 [0.05-3.08]) were associated with higher AoD. Children whose caregivers had tertiary education were diagnosed earlier than those with ≤ 12 years of formal education. Although the influence of CEL increased with caregiver age, differences between CEL groups were significant only for caregivers aged ≥ 30 years. Improved education and early screening for clinical features of autism among healthcare professionals and the community, with a focus on young children without highly apparent developmental concerns and those from vulnerable social groups, are warranted.

Caregiver-Child Agreement in Health-Related Quality of Life of Autistic Children and Adolescents.

This study examined the agreement of perceived health-related quality of life (HRQOL) between caregivers and autistic children and adolescents (n = 133, 5-12 years) using the Pediatric Quality of Life Inventory Generic Core Scales, Fourth Edition (PedsQL 4.0). Results reveal good to excellent agreement over this age range across the total, physical, and psychosocial health scales. However, the emotional, social, and school functioning scores demonstrated lower agreement in dyads with children aged 5-7 than in dyads with children aged 8-12 years. Despite these differences in agreement, overall, the PedsQL 4.0 caregiver-module is a reliable instrument for measuring HRQOL in autistic individuals aged 5-12 years.

[Motor disturbances in children with autism spectrum disorder]. / Alteraciones motoras en pacientes pediátricos con trastorno del espectro autista.

OBJECTIVE: To describe main motor disorders detected in children with autism spectrum disorder (ASD) and analyze associated clinical variables. PATIENTS AND METHOD: A cross-sectional observatio nal study of 96 children with ASD, median age 4 years (range, 3-9), 32.3% girls, and 18.8% preterm. Children were evaluated at the UC-CHRISTUS Clinical Hospital Neurodevelopmental Unit for three years. We analyzed the relationship between motor signs (stereotypies, delayed gait, and hypo/hyper tonia) and spoken language at 4 years of age. RESULTS: 63.5% of children presented a motor disorder, 33.3% had hand or body motor stereotypies at the time of the evaluation, and 28.1% had delayed gait (> 16 months of corrected gestational age). These children had a higher frequency of absence of spoken language at four years of age (OR = 9.36; 95% CI = 2.67-32.78) than patients without delayed gait. 40.6% of children presented alterations in muscle tone during the first two years of life (32.3% generalized hypotonia and 8.3% generalized hypertonia). A history of generalized hypotonia increases the chance of presenting delayed gait (OR = 2.65; 95% CI = 1.08-6.48) and motor stereo typies (OR = 2.63; 95% CI = 1.04-6.65). CONCLUSIONS: Children with ASD usually develop motor disorders that may precede the diagnosis of the condition. In ASD, infant hypotonia may predict the occurrence of other motor disorders, and delayed gait was associated with spoken language absence in preschool age.

Brief Report: Health-Related Quality of Life in Preschoolers with Autism Spectrum Disorder is Related to Diagnostic Age and Autistic Symptom Severity.

We conducted a cross-sectional study to explore whether clinical characteristics and autism diagnostic-traits severity are associated with caregiver-reported impairment of health-related quality of life (Pediatric Quality of Life Inventory Generic Core Scales, Fourth Edition) in 93 Chilean toddlers (age: 2-4 years) with autism spectrum disorder. Median total scale, physical health, and psychosocial health scores were 76 (IQR 70-81), 88 (IQR 81-94), and 71 (IQR 62-79), respectively. In multiple-regression analysis, diagnostic age (ß = 0.219; p 0.021) and Calibrated Severity Score of Autism Diagnostic Observation Schedule, second edition (ß = - 0.434; p < 0.001) were independently correlated to the total scale score. Lower age and higher autistic traits severity at diagnosis are correlated with worse well-being perception by caregivers.